CLINICAL DIFFICULTIES IN THE DIAGNOSIS OF PRADER-WILLI SYNDROME


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Abstract

The paper discusses Prader-Willi syndrome (PWS), a rare form of genetically determined obesity. Due to the low prevalence of the disease (the population frequency is 1:10000-1:20,000), the clinical experience of specialists is insufficient, which often leads to untimely diagnosis. The essence of genetic abnormalities resulting in this pathology is disclosed; the clinical picture of the disease is described; diagnostic criteria that allow reliable diagnosis to be made even before genetic analysis are presented. A clinical case of delayed diagnosis is given as an illustration.

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About the authors

Yu. A Paramonova

City Clinical Hospital Ten

Email: baronina@list.ru
Candidate of Medical Sciences Nizhny Novgorod

Yu. V Khalturina

City Clinical Hospital Ten

Email: baronina@list.ru
Candidate of Medical Sciences Nizhny Novgorod

N. S Khruleva

Volga Research Medical University

Email: baronina@list.ru
Candidate of Medical Sciences Nizhny Novgorod

A. E Khrulev

Volga Research Medical University

Email: baronina@list.ru
Candidate of Medical Sciences Nizhny Novgorod

N. A Lyubavina

Volga Research Medical University

Email: baronina@list.ru
Candidate of Medical Sciences Nizhny Novgorod

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